Variant information
Systematic Name (NM_004992.3:) |
c.1403_1408del6 |
---|---|
Protein name (NP_004983) |
p.Arg468_Pro469del |
Alternate systematic Name (NM_001110792.1:) |
c.1439_1444del6 |
Alternate Protein name (NP_001104262) |
p.(Arg480_Pro481del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295871_153295876del6 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1403_1408del6 | p.Arg468_Pro469del | Female | Rett syndrome-Classical | 466 | ::: | View details |